2. Gene
  3. NOTCH2NLA - notch 2 N-terminal like A Gene

NOTCH2NLA - notch 2 N-terminal like A Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品

中文名称：缺口 2 N 端样 A

种属: Homo sapiens

同用名: N2N; NOTCH2NL

基因 ID: 388677 | 基因类型: protein coding

关于 NOTCH2NLA

Cytogenetic location: 1q21.1 Genomic coordinates (GRCh38): 1:146,148,865-146,229,021 (from NCBI)

This gene has 9 transcripts (splice variants), 121 orthologues and 7 paralogues. Ubiquitous expression in testis (RPKM 12.1), skin (RPKM 6.6) and 25 other tissues.

功能概要

启用 Notch 绑定活动。参与大脑皮层发育和 Notch 信号通路的正调控。位于胞外区。 [由基因组资源联盟提供，2022 年 4 月]

Enables Notch binding activity. Involved in cerebral cortex development and positive regulation of Notch signaling pathway. Located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]

NOTCH2NLA 基因产物(4)

mRNA Protein Name
NM_001364006.2 NP_001350935.1 notch homolog 2 N-terminal-like protein A isoform 2
NM_001395231.1 NP_001382160.1 notch homolog 2 N-terminal-like protein A isoform 3
NM_001395232.1 NP_001382161.1 notch homolog 2 N-terminal-like protein A isoform 4
NM_203458.6 NP_982283.2 notch homolog 2 N-terminal-like protein A isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables Notch binding IPI
IPI: 通过物理相互作用推断
29856954 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
24722188 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cerebral cortex development IDA
IDA: 通过直接分析推断
29561261 GOA
involved in positive regulation of Notch signaling pathway IDA
IDA: 通过直接分析推断
29856954 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

NOTCH2NLA 蛋白结构

EGF

EGF: EGF-like domain (29 - 60)

EGF

EGF: EGF-like domain (73 - 101)

EGF

EGF: EGF-like domain (109 - 138)

EGF_CA

EGF_CA: Calcium-binding EGF domain (143 - 175)

  • 0
  • 100
  • 200
  • 236 a.a.
蛋白主名 其他名称

notch homolog 2 N-terminal-like protein A

Notch homolog 2 N-terminal like protein

重组 NOTCH2NLA 蛋白

目录号 产品名 蛋白编号 纯度
HY-P77107 NOTCH2NL Protein, Human (HEK293, Fc) Q7Z3S9 (M1-N236) ≥95%

关联疾病

疾病名称 别名
Fragile X-Associated Tremor/Ataxia Syndrome

Fxtas Syndrome

Fragile X Tremor/Ataxia Syndrome

Fxtas
Familial Adult Myoclonic Epilepsy

Benign Adult Familial Myoclonus Epilepsy

Bafme

Benign Adult Familial Myoclonic Epilepsy

Fame

Familial Cortical Myoclonic Tremor And Epilepsy

Fcmte

Adcme

Autosomal Dominant Cortical Myoclonus And Epilepsy

Fam

Epilepsy, Myoclonic, Familial Adult

Epilepsy, Myoclonic, Benign Adult Familial, Type 2
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS09449 NOTCH2NLA Human Pre-designed siRNA Set A Pre-designed Sets / 否
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